MED27 , SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia-Reference-Cited by-同舟云学术

MED27 , SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia

Published:2022-07-25 Issue:10 Volume:37 Page:2139-2146
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Movement Disorders

Author:

Reid Kimberley M.¹^ORCID,Spaull Robert¹²^ORCID,Salian Smrithi³^ORCID,Barwick Katy¹^ORCID,Meyer Esther¹,Zhen Juan⁴^ORCID,Hirata Hiromi⁵^ORCID,Sheipouri Diba⁶^ORCID,Benkerroum Hind³,Gorman Kathleen M.⁷⁸^ORCID,Papandreou Apostolos¹²^ORCID,Simpson Michael A.⁹^ORCID,Hirano Yoshinobu⁵,Farabella Irene¹⁰¹¹^ORCID,Topf Maya¹²¹⁰^ORCID,Grozeva Detelina¹³¹⁴^ORCID,Carss Keren¹⁵^ORCID,Smith Martin¹⁶,Pall Hardev¹⁷,Lunt Peter¹⁸,De Gressi Susanna¹⁹,Kamsteeg Erik‐Jan²⁰^ORCID,Haack Tobias B.²¹^ORCID,Carr Lucinda²^ORCID,Guerreiro Rita²²,Bras Jose²²,Maher Eamonn R.²³^ORCID,Scott Richard H.²⁴^ORCID,Vandenberg Robert J.⁶,Raymond F. Lucy¹⁴^ORCID,Chong Wui K.²⁵²⁶^ORCID,Sudhakar Sniya²⁵²⁶^ORCID,Mankad Kshitij²⁵²⁶^ORCID,Reith Maarten E.²⁷^ORCID,Campeau Philippe M.³^ORCID,Harvey Robert J.²⁸²⁹^ORCID,Kurian Manju A.¹²^ORCID

Affiliation:

1. Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children UCL Great Ormond Street Institute of Child Health London United Kingdom

2. Department of Neurology Great Ormond Street Hospital London United Kingdom

3. Department of Pediatrics, CHU Sainte‐Justine Research Center University of Montreal Montreal Quebec Canada

4. Cell Therapy and Cell Engineering Facility Memorial Sloan Kettering Cancer Center New York New York USA

5. Department of Chemistry and Biological Science College of Science and Engineering, Aoyama Gakuin University Sagamihara Japan

6. School of Medical Sciences, University of Sydney Sydney New South Wales Australia

7. Department of Neurology and Clinical Neurophysiology Children's Health Ireland at Temple Street Dublin Ireland

8. School of Medicine and Medical Sciences University College Dublin Dublin Ireland

9. Division of Genetics and Molecular Medicine King's College London School of Medicine London United Kingdom

10. Institute of Structural and Molecular Biology, Crystallography/Department of Biological Sciences Birkbeck College, University of London London United Kingdom

11. CNAG‐CRG, Centre for Genomic Regulation (CRG) The Barcelona Institute of Science and Technology (BIST) Barcelona Spain

12. Leibniz Institute for Virology (HPI) and Universitätsklinikum Hamburg Eppendorf (UKE) Centre for Structural Systems Biology (CSSB) Hamburg Germany

13. Department of Medical Genetics Cambridge Institute for Medical Research, University of Cambridge Cambridge United Kingdom

14. Centre for Trials Research, Neuadd Meirionnydd Cardiff University Cardiff United Kingdom

15. Wellcome Trust Sanger Institute Cambridge United Kingdom

16. Department of Neurology John Radcliffe Hospital Oxford United Kingdom

17. Department of Neurology Queen Elizabeth Hospital Birmingham United Kingdom

18. Clinical Genetic Service Gloucester Royal Hospital Gloucester United Kingdom

19. Department of Paediatrics Cheltenham General Hospital Gloucestershire United Kingdom

20. Department of Human Genetics Radboud University Medical Center Nijmegen Netherlands

21. Institute of Medical Genetics and Applied Genomics University of Tuebingen Tuebingen Germany

22. Department of Neurodegenerative Science Van Andel Institute Grand Rapids Michigan USA

23. Department of Medical Genetics University of Cambridge Cambridge United Kingdom

24. Department of Clinical Genetics Great Ormond Street Hospital London United Kingdom

25. Department of Radiology Great Ormond Street Hospital London United Kingdom

26. Developmental Neurosciences Department UCL Great Ormond Street Institute of Child Health London United Kingdom

27. Department of Psychiatry New York University School of Medicine New York New York USA

28. School of Health and Behavioural Sciences University of the Sunshine Coast Sippy Downs Queensland Australia

29. Sunshine Coast Health Institute Birtinya Queensland Australia

Funder

Medical Research Council Canada

National Health and Medical Research Council

Rosetrees Trust

Sir Jules Thorn Charitable Trust

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.29147

Reference32 articles.

1. 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report

2. The UK10K project identifies rare variants in health and disease

3. Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

4. Monogenic variants in dystonia: an exome-wide sequencing study

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2. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders;Brain;2023-07-30

3. Mutation Screening of MED27 in a Large Dystonia Cohort;Acta Neurologica Scandinavica;2023-02-07